KEGG   Homo sapiens (human): 5896Help
Entry
5896              CDS       T01001                                 

Gene name
RAG1, RAG-1, RNF74
Definition
(RefSeq) recombination activating 1
  KO
K10628  V(D)J recombination-activating protein 1 [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04068  FoxO signaling pathway
hsa05340  Primary immunodeficiency
Disease
H00092  T-B-Severe combined immunodeficiencies (SCIDs)
H00093  Combined immunodeficiencies (CIDs)
H01244  T+B+Severe combined immunodeficiencies (SCIDs)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04068 FoxO signaling pathway
    5896 (RAG1)
 Human Diseases
  Immune diseases
   05340 Primary immunodeficiency
    5896 (RAG1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     5896 (RAG1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Other single Ring-finger type E3
    5896 (RAG1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: RAG1 RAG1_imp_bd zf-RAG1 zf-C3HC4 zf-C3HC4_2 zf-RING_6 zf-RING_2 zf-C3HC4_4 zf-RING_10 zf-RING_UBOX
Motif
Other DBs
NCBI-GeneID: 5896
NCBI-ProteinID: NP_000439
OMIM: 179615
HGNC: 9831
Ensembl: ENSG00000166349
Vega: OTTHUMG00000166392
Pharos: P15918(Tbio)
UniProt: P15918
Position
11p12
AA seq 1043 aa AA seqDB search
MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEAQKEKKDSFEGKPSLE
QSPAVLDKADGQKPVPTQPLLKAHPKFSKKFHDNEKARGKAIHQANLRHLCRICGNSFRA
DEHNRRYPVHGPVDGKTLGLLRKKEKRATSWPDLIAKVFRIDVKADVDSIHPTEFCHNCW
SIMHRKFSSAPCEVYFPRNVTMEWHPHTPSCDICNTARRGLKRKSLQPNLQLSKKLKTVL
DQARQARQRKRRAQARISSKDVMKKIANCSKIHLSTKLLAVDFPEHFVKSISCQICEHIL
ADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDLESPVKSFLSVLNSLMVKCPA
KECNEEVSLEKYNHHISSHKESKEIFVHINKGGRPRQHLLSLTRRAQKHRLRELKLQVKA
FADKEEGGDVKSVCMTLFLLALRARNEHRQADELEAIMQGKGSGLQPAVCLAIRVNTFLS
CSQYHKMYRTVKAITGRQIFQPLHALRNAEKVLLPGYHHFEWQPPLKNVSSSTDVGIIDG
LSGLSSSVDDYPVDTIAKRFRYDSALVSALMDMEEDILEGMRSQDLDDYLNGPFTVVVKE
SCDGMGDVSEKHGSGPVVPEKAVRFSFTIMKITIAHSSQNVKVFEEAKPNSELCCKPLCL
MLADESDHETLTAILSPLIAEREAMKSSELMLELGGILRTFKFIFRGTGYDEKLVREVEG
LEASGSVYICTLCDATRLEASQNLVFHSITRSHAENLERYEVWRSNPYHESVEELRDRVK
GVSAKPFIETVPSIDALHCDIGNAAEFYKIFQLEIGEVYKNPNASKEERKRWQATLDKHL
RKKMNLKPIMRMNGNFARKLMTKETVDAVCELIPSEERHEALRELMDLYLKMKPVWRSSC
PAKECPESLCQYSFNSQRFAELLSTKFKYRYEGKITNYFHKTLAHVPEIIERDGSIGAWA
SEGNESGNKLFRRFRKMNARQSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMN
PQASLGDPLGIEDSLESQDSMEF
NT seq 3132 nt NT seq  +upstreamnt  +downstreamnt
atggcagcctctttcccacccaccttgggactcagttctgccccagatgaaattcagcac
ccacatattaaattttcagaatggaaatttaagctgttccgggtgagatcctttgaaaag
acacctgaagaagctcaaaaggaaaagaaggattcctttgaggggaaaccctctctggag
caatctccagcagtcctggacaaggctgatggtcagaagccagtcccaactcagccattg
ttaaaagcccaccctaagttttcaaagaaatttcacgacaacgagaaagcaagaggcaaa
gcgatccatcaagccaaccttcgacatctctgccgcatctgtgggaattcttttagagct
gatgagcacaacaggagatatccagtccatggtcctgtggatggtaaaaccctaggcctt
ttacgaaagaaggaaaagagagctacttcctggccggacctcattgccaaggttttccgg
atcgatgtgaaggcagatgttgactcgatccaccccactgagttctgccataactgctgg
agcatcatgcacaggaagtttagcagtgccccatgtgaggtttacttcccgaggaacgtg
accatggagtggcacccccacacaccatcctgtgacatctgcaacactgcccgtcgggga
ctcaagaggaagagtcttcagccaaacttgcagctcagcaaaaaactcaaaactgtgctt
gaccaagcaagacaagcccgtcagcgcaagagaagagctcaggcaaggatcagcagcaag
gatgtcatgaagaagatcgccaactgcagtaagatacatcttagtaccaagctccttgca
gtggacttcccagagcactttgtgaaatccatctcctgccagatctgtgaacacattctg
gctgaccctgtggagaccaactgtaagcatgtcttttgccgggtctgcattctcagatgc
ctcaaagtcatgggcagctattgtccctcttgccgatatccatgcttccctactgacctg
gagagtccagtgaagtcctttctgagcgtcttgaattccctgatggtgaaatgtccagca
aaagagtgcaatgaggaggtcagtttggaaaaatataatcaccacatctcaagtcacaag
gaatcaaaagagatttttgtgcacattaataaagggggccggccccgccaacatcttctg
tcgctgactcggagagctcagaagcaccggctgagggagctcaagctgcaagtcaaagcc
tttgctgacaaagaagaaggtggagatgtgaagtccgtgtgcatgaccttgttcctgctg
gctctgagggcgaggaatgagcacaggcaagctgatgagctggaggccatcatgcaggga
aagggctctggcctgcagccagctgtttgcttggccatccgtgtcaacaccttcctcagc
tgcagtcagtaccacaagatgtacaggactgtgaaagccatcacagggagacagattttt
cagcctttgcatgcccttcggaatgctgagaaggtacttctgccaggctaccaccacttt
gagtggcagccacctctgaagaatgtgtcttccagcactgatgttggcattattgatggg
ctgtctggactatcatcctctgtggatgattacccagtggacaccattgcaaagaggttc
cgctatgattcagctttggtgtctgctttgatggacatggaagaagacatcttggaaggc
atgagatcccaagaccttgatgattacctgaatggccccttcactgtggtggtgaaggag
tcttgtgatggaatgggagacgtgagtgagaagcatgggagtgggcctgtagttccagaa
aaggcagtccgtttttcattcacaatcatgaaaattactattgcccacagctctcagaat
gtgaaagtatttgaagaagccaaacctaactctgaactgtgttgcaagccattgtgcctt
atgctggcagatgagtctgaccacgagacgctgactgccatcctgagtcctctcattgct
gagagggaggccatgaagagcagtgaattaatgcttgagctgggaggcattctccggact
ttcaagttcatcttcaggggcaccggctatgatgaaaaacttgtgcgggaagtggaaggc
ctcgaggcttctggctcagtctacatttgtactctttgtgatgccacccgtctggaagcc
tctcaaaatcttgtcttccactctataaccagaagccatgctgagaacctggaacgttat
gaggtctggcgttccaacccttaccatgagtctgtggaagaactgcgggatcgggtgaaa
ggggtctcagctaaacctttcattgagacagtcccttccatagatgcactccactgtgac
attggcaatgcagctgagttctacaagatcttccagctagagataggggaagtgtataag
aatcccaatgcttccaaagaggaaaggaaaaggtggcaggccacactggacaagcatctc
cggaagaagatgaacctcaaaccaatcatgaggatgaatggcaactttgccaggaagctc
atgaccaaagagactgtggatgcagtttgtgagttaattccttccgaggagaggcacgag
gctctgagggagctgatggatctttacctgaagatgaaaccagtatggcgatcatcatgc
cctgctaaagagtgcccagaatccctctgccagtacagtttcaattcacagcgttttgct
gagctcctttctacgaagttcaagtataggtatgagggaaaaatcaccaattattttcac
aaaaccctggcccatgttcctgaaattattgagagggatggctccattggggcatgggca
agtgagggaaatgagtctggtaacaaactgtttaggcgcttccggaaaatgaatgccagg
cagtccaaatgctatgagatggaagatgtcctgaaacaccactggttgtacacctccaaa
tacctccagaagtttatgaatgctcataatgcattaaaaacctctgggtttaccatgaac
cctcaggcaagcttaggggacccattaggcatagaggactctctggaaagccaagattca
atggaattttaa

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